OHF Stories is a new initiative from the Oxalosis & Hyperoxaluria Foundation intended to heighten awareness of our rare disease through the stories of families living with it. Our first author is Kristi Ouimet, who many of you may know, mother of two children with PH1.
We invite any family with a story to tell to contact us. The more information available to the public, the scientific community & legislators, the better chance we have for more research, more understanding and, eventually, a cure.
By Kristi Ouimet
Our nephrologist was still searching for a diagnosis. He believed Molly could be suffering from a rare genetic disease, but he would need a blood test to confirm it. He told us there was only one place he knew of that could do the test to confirm this diagnosis and it was in another state. We were finally able to get lab work ordered for our family of 4. A few weeks later I got a phone call confirming our daughter had Primary Hyperoxaluria Type 1. Our son Patrick did not have the genetic disease, nor was he a carrier for it. It was bittersweet knowing at least our son would be saved from ever experiencing what our daughter was going through.
It was a relief to finally have a diagnosis and know what was causing her kidney stones, but it was very scary because I could find very little information about this disease. I had always feared that my daughter was suffering from something that was my fault. I wanted to know if I could do anything to help her other than change her diet and increase water consumption. Finding out this was a genetic issue helped me realize that this was no one’s fault. We met with genetic counselors who explained that my husband and I were carriers for this disease.
We met with our nephrologist after getting the diagnosis and asked what we could expect with this disease. He gave us a lot of “possible this” or “potential that.” He could not say for sure what to expect because it was a rare disease and could present differently in patients. One thing that resonated with me was when he said if there is a lot of damage to the kidney because of the stones and surgery, it could prevent the kidney from growing and functioning properly. It was the first time I heard the words “kidney transplant” when referring to my child. I was so scared at the possibility of my child needing a kidney transplant. I went home feeling numb and confused.
That night, my sister and I watched Grey’s Anatomy TV show and it was an episode when one of the main characters passed away and his organs were donated. There was a scene when another doctor demanded to know where the organs were going and I heard the kidney was going to a child named “Molly.” Hearing those words felt like a slap to the face, but it also felt like a sign that everything was going to work out. I couldn’t focus on all the possibilities of the future. I had to deal with the here and now. The following week my daughter had career day at school and she went dressed as a doctor in her own scrubs and lab coat. She showed her classmates and their parents pictures of her X-ray and ultrasound of her kidney stones. One parent cringed and asked how she was able to deal with the pain of kidney stones.
My 5 year old daughter shrugged and said wanted to be a doctor when she grows up and maybe this would help her understand what being a patient was like. Maybe it would help make her a really good doctor. She said the surgeons she had were silly and fun and made her not feel so scared. Our little girl taught everyone a big lesson that day. You just have to deal with what life gives you. She has never asked why this happened to her, but instead tried finding ways to learn something from it. We decided to live by this attitude and not focus so much on why it was happening to her, but what we could learn from it and help others. We didn’t let this disease define our daughter or change how we lived our lives together. We just dealt with it.